Variant report

Variant	rs71300374
Chromosome Location	chr3:145780582-145780583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:145779263-145780875	U87	brain:	n/a	n/a
2	POLR2A	chr3:145779264-145780820	U87	brain:	n/a	n/a
3	POLR2A	chr3:145779452-145780974	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:145779113-145782868	A549	lung:	n/a	n/a
5	POLR2A	chr3:145780267-145780745	U87	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:145779537..145781361-chr3:145905477..145907451,2	MCF-7	breast:
2	chr3:145779679..145784840-chr3:145877412..145880527,5	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC107021.1-5	chr3:145773594-145781545	NONHSAT092545

No data

Variant related genes	Relation type
ENSG00000232013	TF binding region
ENSG00000243415	TF binding region
ENSG00000261051	TF binding region
ENSG00000152952	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13065572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13066226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13075648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13079521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13088659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13095139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16857900	1.00[EUR][1000 genomes]
rs34041519	0.87[AMR][1000 genomes]
rs34092280	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34201307	1.00[AFR][1000 genomes]
rs34248972	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34298175	1.00[AMR][1000 genomes]
rs34392701	1.00[AFR][1000 genomes]
rs34589717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34695557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34901222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35017529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35020806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35080774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35479343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35520151	1.00[AFR][1000 genomes]
rs35687630	1.00[AFR][1000 genomes]
rs35880277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35969739	1.00[AMR][1000 genomes]
rs62272613	1.00[AFR][1000 genomes]
rs71300372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71300373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71300375	0.84[EUR][1000 genomes]
rs71300377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71300378	1.00[AMR][1000 genomes]
rs71300379	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71300380	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71300381	1.00[AFR][1000 genomes]
rs71300383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71621137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877584	chr3:144903957-145833232	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv525829	chr3:145614317-145863779	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv4046	chr3:145693249-145880189	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145762800-145785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:145765000-145782000	Weak transcription	HUVEC	blood vessel
3	chr3:145768800-145788400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:145772800-145781800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:145773800-145783600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:145774600-145787200	Weak transcription	Esophagus	oesophagus
7	chr3:145774600-145795400	Weak transcription	Aorta	Aorta
8	chr3:145775400-145782000	Weak transcription	Liver	Liver
9	chr3:145775400-145786600	Weak transcription	HepG2	liver
10	chr3:145776200-145786000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:145776200-145786400	Weak transcription	Adipose Nuclei	Adipose
12	chr3:145776600-145787200	Weak transcription	HMEC	breast
13	chr3:145776800-145782400	Weak transcription	NH-A	brain
14	chr3:145776800-145783600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:145777000-145783600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:145777000-145783600	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:145777000-145819400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:145777200-145782000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr3:145777600-145783600	Strong transcription	Osteobl	bone
20	chr3:145778200-145782400	Weak transcription	HSMMtube	muscle
21	chr3:145778200-145817200	Weak transcription	Fetal Stomach	stomach
22	chr3:145778600-145789000	Weak transcription	Left Ventricle	heart
23	chr3:145778800-145788400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:145779000-145789600	Weak transcription	Fetal Heart	heart
25	chr3:145779400-145783000	Strong transcription	A549	lung
26	chr3:145779400-145788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:145779600-145784200	Strong transcription	HSMM	muscle
28	chr3:145779600-145820600	Weak transcription	Fetal Kidney	kidney
29	chr3:145780000-145783600	Weak transcription	Fetal Lung	lung
30	chr3:145780000-145815600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:145780200-145784200	Weak transcription	NHLF	lung
32	chr3:145780400-145782000	Weak transcription	Fetal Intestine Large	intestine

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